Duchenne muscular dystrophy
RSS feedNeurodevelopmental disorders quantified in DMD
While the impact of Duchenne muscular dystrophy (DMD) on patients’ cognition is well known, an Italian team focused specifically on the prevalence of neurodevelopmental disorders in these patients. A retrospective analysis of the clinical characteristics and psychological assessments of 264 boys (aged six years or older) and men with DMD yielded the following results: nearly … [Read more]
A plea for neonatal screening for DMD
In a comprehensive article, American specialists analyse practices and prospects for newborn screening for Duchenne muscular dystrophy in the United States: this screening is technically feasible and is based on creatine phosphokinase (CPK) testing in the first days of life, confirmed by DMD gene testing, from August 2023, the Federal Committee responsible for proposing recommendations … [Read more]
Sustainable cardioprotection with utrophin in DMD
Scientists have evaluated a gene therapy based on micro-utrophin, a protein similar to dystrophin, which is deficient in Duchenne muscular dystrophy (DMD). This therapy was administered to mice models of the disease, exposed to pharmacological and exercise-related stress. The therapy provided protection against cardiac damage, as evidenced in particular by a decrease in troponin levels. … [Read more]
Unfavorable opinion on marketing authorisation and suspension of clinical trials in Europe for Elevidys in DMD
Over the summer, the European Medicines Agency (EMA) issued an unfavourable opinion on the conditional marketing authorisation of Elevidys, a microdystrophin gene therapy for ambulatory patients aged 3 to 7 years with Duchenne muscular dystrophy (DMD). This opinion, which must be ratified by the European Commission, is based on insufficient data on the treatment’s efficacy … [Read more]
Review of current and emerging therapeutic strategies in DMD
Duchenne muscular dystrophy (DMD) is a serious, progressive genetic disorder. It is caused by mutations in the DMD gene that result in the absence of dystrophin, an essential structural protein of the sarcolemma. This weakens the sarcolemmal membrane and makes it highly sensitive to mechanical stress. The heart muscle suffers degenerative alterations similar to those … [Read more]
Advances in Duchenne muscular dystrophy and Becker muscular dystrophy – 2025
This document presents a selection of Duchenne muscular dystrophy and Becker muscular dystrophy research news stories from the past year (ongoing observational studies and clinical trials, scientific and medical publications, etc.). Access the document Advances in Duchenne muscular dystrophy and Becker muscular dystrophy – 2025
UK recommendations to improve orthopedic care in DMD
A group of British experts has formulated recommendations, approved by the British Society for Children’s Orthopaedic Surgery, aimed at harmonizing and improving orthopedic care for children and young adults with Duchenne muscular dystrophy (DMD). Non-urgent care should be provided in specialized centers, but fractures can be treated by local trauma units if sufficient medical and … [Read more]
Research into biomarkers to differentiate Becker and Duchenne muscular dystrophies
Swedish and Dutch researchers used mass spectrometry to try to identify proteomic profiles that would distinguish between the two most common types of dystrophinopathy, namely Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD): 34 patients with BMD and 19 with DMD were included in the study, which lasted three years and consisted of collecting … [Read more]
A cardiac micro-pump useful in cases of decompensated cardiomyopathy in DMD
American researchers report the successful implantation of a temporary Impella 5.5 endocavitary micro–pump developedby Abiomed: the patient was a 14–year–old boy with Duchenne muscular dystrophy, he had been transferred for treatment of cardiogenic shock in the context of decompensation of his cardiomyopathy. the implantable device was inserted through the right axillary artery into the left … [Read more]
Gene therapy and DMD: a possible link with cardiac inflammation?
Following the serious side effects observed during trials of micro–dystrophin gene therapy using an AAV viral vector in Duchenne muscular dystrophy (DMD), researchers at the Institute of Myology undertook to investigate the mechanismsinvolved in greater depth: a transgenic mouse with a double knockout for dystrophin and utrophin was used as an experimental model, treated with … [Read more]
